U.S. flag

An official website of the United States government

GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000137424.6

Allele description [Variation Report for GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1]

GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1

Genes:
  • LOC130061470:ATAC-STARR-seq lymphoblastoid active region 12613 [Gene]
  • LOC130061471:ATAC-STARR-seq lymphoblastoid active region 12614 [Gene]
  • LOC130061473:ATAC-STARR-seq lymphoblastoid active region 12615 [Gene]
  • LOC130061472:ATAC-STARR-seq lymphoblastoid silent region 8864 [Gene]
  • LOC129390915:MPRA-validated peak2944 silencer [Gene]
  • LOC126862621:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:64640965-64642164 [Gene]
  • LOC121852945:Sharpr-MPRA regulatory region 12401 [Gene]
  • LOC125316775:Sharpr-MPRA regulatory region 12581 [Gene]
  • LOC125316774:Sharpr-MPRA regulatory region 4299 [Gene]
  • LOC125316776:Sharpr-MPRA regulatory region 6976 [Gene]
  • PRKCA:protein kinase C alpha [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
GRCh38/hg38 17q24.2(chr17:66424178-66746437)x1
HGVS:
  • NC_000017.11:g.(?_66424178)_(66746437_?)del
  • NC_000017.10:g.(?_64420296)_(64742555_?)del
  • NC_000017.9:g.(?_61850758)_(62173017_?)del
Links:
dbVar: nssv1415264; dbVar: nsv817351
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177644ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Apr 14, 2011) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000177644.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024